Chr Mutation (hg38) CAid Gene Transcript Linkouts
2g.189000730_189007456delCA913190215COL3A1c.2185-667_3157-44del
c.2284-667_3256-44del
c.2284-667_2528-598del
 ClinVar
2g.189001289_189008107delCA913190216COL3A1c.2185-108_3391del
c.2284-108_3490del
c.2284-108_2581del
 ClinVar
2g.189005611_189008365delCA913190217COL3A1c.2940+154_3426+223del
c.3039+154_3525+223del
c.2528-2443_2616+223del
 ClinVar
2g.189006079_189007097delCA913190218COL3A1c.2941-127_3156+107del
c.3040-127_3255+107del
c.2528-1975_2528-957del (n.2528-1975_2528-957del)
 ClinVar
2g.189006161G>TCA2577185868COL3A1c.2941-45G>T (n.2941-45G>T)
c.3040-45G>T (n.3040-45G>T)
c.2528-1893G>T (n.2528-1893G>T)
2g.189006162G>ACA075820COL3A1c.2941-44G>A (n.2941-44G>A)
c.3040-44G>A (n.3040-44G>A)
c.2528-1892G>A (n.2528-1892G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189006162G=CA1315403999COL3A1c.2941-44G= (n.2941-44G=)
c.3040-44G= (n.3040-44G=)
c.2528-1892G= (n.2528-1892G=)
2g.189006163A=CA1315404000COL3A1c.2941-43A= (n.2941-43A=)
c.3040-43A= (n.3040-43A=)
c.2528-1891A= (n.2528-1891A=)
2g.189006163A>GCA075818COL3A1c.2941-43A>G (n.2941-43A>G)
c.3040-43A>G (n.3040-43A>G)
c.2528-1891A>G (n.2528-1891A>G)
 dbSNP ExAC gnomAD v3 gnomAD v4
2g.189006164A>CCA2662310497COL3A1c.2941-42A>C (n.2941-42A>C)
c.3040-42A>C (n.3040-42A>C)
c.2528-1890A>C (n.2528-1890A>C)
 gnomAD v4
2g.189006165G>ACA62559023COL3A1c.2941-41G>A (n.2941-41G>A)
c.3040-41G>A (n.3040-41G>A)
c.2528-1889G>A (n.2528-1889G>A)
 dbSNP gnomAD v4
2g.189006165G=CA1315404001COL3A1c.2941-41G= (n.2941-41G=)
c.3040-41G= (n.3040-41G=)
c.2528-1889G= (n.2528-1889G=)
2g.189006165G>TCA2662310498COL3A1c.2941-41G>T (n.2941-41G>T)
c.3040-41G>T (n.3040-41G>T)
c.2528-1889G>T (n.2528-1889G>T)
 gnomAD v4
2g.189006166G>ACA075817COL3A1c.2941-40G>A (n.2941-40G>A)
c.3040-40G>A (n.3040-40G>A)
c.2528-1888G>A (n.2528-1888G>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189006166G=CA1315404002COL3A1c.2941-40G= (n.2941-40G=)
c.3040-40G= (n.3040-40G=)
c.2528-1888G= (n.2528-1888G=)
2g.189006166G>TCA2662310499COL3A1c.2941-40G>T (n.2941-40G>T)
c.3040-40G>T (n.3040-40G>T)
c.2528-1888G>T (n.2528-1888G>T)
 gnomAD v4
2g.189006171A>GCA2577185869COL3A1c.2941-35A>G (n.2941-35A>G)
c.3040-35A>G (n.3040-35A>G)
c.2528-1883A>G (n.2528-1883A>G)
2g.189006172A=CA1315404003COL3A1c.2941-34A= (n.2941-34A=)
c.3040-34A= (n.3040-34A=)
c.2528-1882A= (n.2528-1882A=)
2g.189006172A>CCA2701054303COL3A1c.2941-34A>C (n.2941-34A>C)
c.3040-34A>C (n.3040-34A>C)
c.2528-1882A>C (n.2528-1882A>C)
 dbSNP
2g.189006172A>GCA538448975COL3A1c.2941-34A>G (n.2941-34A>G)
c.3040-34A>G (n.3040-34A>G)
c.2528-1882A>G (n.2528-1882A>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189006173G>ACA2529434169COL3A1c.2941-33G>A (n.2941-33G>A)
c.3040-33G>A (n.3040-33G>A)
c.2528-1881G>A (n.2528-1881G>A)
2g.189006173G>TCA2662310500COL3A1c.2941-33G>T (n.2941-33G>T)
c.3040-33G>T (n.3040-33G>T)
c.2528-1881G>T (n.2528-1881G>T)
 gnomAD v4
2g.189006174A>GCA2517435243COL3A1c.2941-32A>G (n.2941-32A>G)
c.3040-32A>G (n.3040-32A>G)
c.2528-1880A>G (n.2528-1880A>G)
2g.189006175A>TCA2662310501COL3A1c.2941-31A>T (n.2941-31A>T)
c.3040-31A>T (n.3040-31A>T)
c.2528-1879A>T (n.2528-1879A>T)
 gnomAD v4
2g.189006176A=CA1315404004COL3A1c.2941-30A= (n.2941-30A=)
c.3040-30A= (n.3040-30A=)
c.2528-1878A= (n.2528-1878A=)
2g.189006176A>GCA075815COL3A1c.2941-30A>G (n.2941-30A>G)
c.3040-30A>G (n.3040-30A>G)
c.2528-1878A>G (n.2528-1878A>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189006181A=CA1315404005COL3A1c.2941-25A= (n.2941-25A=)
c.3040-25A= (n.3040-25A=)
c.2528-1873A= (n.2528-1873A=)
2g.189006181A>GCA2662310502COL3A1c.2941-25A>G (n.2941-25A>G)
c.3040-25A>G (n.3040-25A>G)
c.2528-1873A>G (n.2528-1873A>G)
 gnomAD v4
2g.189006181A>TCA075813COL3A1c.2941-25A>T (n.2941-25A>T)
c.3040-25A>T (n.3040-25A>T)
c.2528-1873A>T (n.2528-1873A>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189006184T>ACA075811COL3A1c.2941-22T>A (n.2941-22T>A)
c.3040-22T>A (n.3040-22T>A)
c.2528-1870T>A (n.2528-1870T>A)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189006184T=CA1315404006COL3A1c.2941-22T= (n.2941-22T=)
c.3040-22T= (n.3040-22T=)
c.2528-1870T= (n.2528-1870T=)
2g.189006186C>ACA2662310503COL3A1c.2941-20C>A (n.2941-20C>A)
c.3040-20C>A (n.3040-20C>A)
c.2528-1868C>A (n.2528-1868C>A)
 gnomAD v4
2g.189006186C>GCA2662310504COL3A1c.2941-20C>G (n.2941-20C>G)
c.3040-20C>G (n.3040-20C>G)
c.2528-1868C>G (n.2528-1868C>G)
 gnomAD v4
2g.189006187T>CCA762206153COL3A1c.2941-19T>C (n.2941-19T>C)
c.3040-19T>C (n.3040-19T>C)
c.2528-1867T>C (n.2528-1867T>C)
 dbSNP
2g.189006187T=CA1315404007COL3A1c.2941-19T= (n.2941-19T=)
c.3040-19T= (n.3040-19T=)
c.2528-1867T= (n.2528-1867T=)
2g.189006188T>GCA075810COL3A1c.2941-18T>G (n.2941-18T>G)
c.3040-18T>G (n.3040-18T>G)
c.2528-1866T>G (n.2528-1866T>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189006188T=CA1315404008COL3A1c.2941-18T= (n.2941-18T=)
c.3040-18T= (n.3040-18T=)
c.2528-1866T= (n.2528-1866T=)
2g.189006189T>CCA1315404010COL3A1c.2941-17T>C (n.2941-17T>C)
c.3040-17T>C (n.3040-17T>C)
c.2528-1865T>C (n.2528-1865T>C)
 dbSNP
2g.189006189T=CA1315404009COL3A1c.2941-17T= (n.2941-17T=)
c.3040-17T= (n.3040-17T=)
c.2528-1865T= (n.2528-1865T=)
2g.189006193A=CA1315404011COL3A1c.2941-13A= (n.2941-13A=)
c.3040-13A= (n.3040-13A=)
c.2528-1861A= (n.2528-1861A=)
2g.189006194T>CCA075808COL3A1c.2941-12T>C (n.2941-12T>C)
c.3040-12T>C (n.3040-12T>C)
c.2528-1860T>C (n.2528-1860T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189006194T=CA1315404012COL3A1c.2941-12T= (n.2941-12T=)
c.3040-12T= (n.3040-12T=)
c.2528-1860T= (n.2528-1860T=)
2g.189006199dupCA538448976COL3A1c.2941-7dup (n.2941-7dup)
c.3040-7dup (n.3040-7dup)
c.2528-1855dup (n.2528-1855dup)
 ClinVar dbSNP gnomAD v2 gnomAD v4
2g.189006198T>GCA2580065376COL3A1c.2941-8T>G (n.2941-8T>G)
c.3040-8T>G (n.3040-8T>G)
c.2528-1856T>G (n.2528-1856T>G)
 ClinVar
2g.189006199T>CCA62559092COL3A1c.2941-7T>C (n.2941-7T>C)
c.3040-7T>C (n.3040-7T>C)
c.2528-1855T>C (n.2528-1855T>C)
 ClinVar dbSNP gnomAD v4
2g.189006199T=CA1315404013COL3A1c.2941-7T= (n.2941-7T=)
c.3040-7T= (n.3040-7T=)
c.2528-1855T= (n.2528-1855T=)
2g.189006200A=CA1315404014COL3A1c.2941-6A= (n.2941-6A=)
c.3040-6A= (n.3040-6A=)
c.2528-1854A= (n.2528-1854A=)
2g.189006200A>GCA915942249COL3A1c.2941-6A>G (n.2941-6A>G)
c.3040-6A>G (n.3040-6A>G)
c.2528-1854A>G (n.2528-1854A>G)
 ClinVar dbSNP
2g.189006201A=CA1315404015COL3A1c.2941-5A= (n.2941-5A=)
c.3040-5A= (n.3040-5A=)
c.2528-1853A= (n.2528-1853A=)
2g.189006201A>TCA762206179COL3A1c.2941-5A>T (n.2941-5A>T)
c.3040-5A>T (n.3040-5A>T)
c.2528-1853A>T (n.2528-1853A>T)
 dbSNP gnomAD v4
2g.189006202T>CCA075823COL3A1c.2941-4T>C (n.2941-4T>C)
c.3040-4T>C (n.3040-4T>C)
c.2528-1852T>C (n.2528-1852T>C)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189006202T=CA1315404016COL3A1c.2941-4T= (n.2941-4T=)
c.3040-4T= (n.3040-4T=)
c.2528-1852T= (n.2528-1852T=)
2g.189006203C>ACA2662310505COL3A1c.2941-3C>A (n.2941-3C>A)
c.3040-3C>A (n.3040-3C>A)
c.2528-1851C>A (n.2528-1851C>A)
 gnomAD v4
2g.189006203C>GCA2573134200COL3A1c.2941-3C>G (n.2941-3C>G)
c.3040-3C>G (n.3040-3C>G)
c.2528-1851C>G (n.2528-1851C>G)
 ClinVar dbSNP
2g.189006204A>CCA349844887COL3A1c.2941-2A>C (n.2941-2A>C)
c.3040-2A>C (n.3040-2A>C)
c.2528-1850A>C (n.2528-1850A>C)
2g.189006204A>GCA349844885COL3A1c.2941-2A>G (n.2941-2A>G)
c.3040-2A>G (n.3040-2A>G)
c.2528-1850A>G (n.2528-1850A>G)
2g.189006204A>TCA349844886COL3A1c.2941-2A>T (n.2941-2A>T)
c.3040-2A>T (n.3040-2A>T)
c.2528-1850A>T (n.2528-1850A>T)
2g.189006205G>ACA349844888COL3A1c.2941-1G>A (n.2941-1G>A)
c.3040-1G>A (n.3040-1G>A)
c.2528-1849G>A (n.2528-1849G>A)
2g.189006205G>CCA62559136COL3A1c.2941-1G>C (n.2941-1G>C)
c.3040-1G>C (n.3040-1G>C)
c.2528-1849G>C (n.2528-1849G>C)
 dbSNP
2g.189006205G=CA1315404017COL3A1c.2941-1G= (n.2941-1G=)
c.3040-1G= (n.3040-1G=)
c.2528-1849G= (n.2528-1849G=)
2g.189006205G>TCA62559138COL3A1c.2941-1G>T (n.2941-1G>T)
c.3040-1G>T (n.3040-1G>T)
c.2528-1849G>T (n.2528-1849G>T)
 dbSNP
2g.189006206G>ACA349844889COL3A1c.2941G>A (p.Gly981Arg)
c.3040G>A (p.Gly1014Arg)
c.2528-1848G>A (n.2528-1848G>A)
 ClinVar dbSNP
2g.189006206G>CCA349844890COL3A1c.2941G>C (p.Gly981Arg)
c.3040G>C (p.Gly1014Arg)
c.2528-1848G>C (n.2528-1848G>C)
2g.189006206G=CA1315404018COL3A1c.2941G= (p.Gly981=)
c.3040G= (p.Gly1014=)
c.2528-1848G= (n.2528-1848G=)
2g.189006206G>TCA349844891COL3A1c.2941G>T (p.Gly981Ter)
c.3040G>T (p.Gly1014Ter)
c.2528-1848G>T (n.2528-1848G>T)
2g.189006207G>ACA005988COL3A1c.2942G>A (p.Gly981Glu)
c.3041G>A (p.Gly1014Glu)
c.2528-1847G>A (n.2528-1847G>A)
 ClinVar dbSNP COSMIC
2g.189006207G>CCA349844892COL3A1c.2942G>C (p.Gly981Ala)
c.3041G>C (p.Gly1014Ala)
c.2528-1847G>C (n.2528-1847G>C)
2g.189006207G=CA1315404019COL3A1c.2942G= (p.Gly981=)
c.3041G= (p.Gly1014=)
c.2528-1847G= (n.2528-1847G=)
2g.189006207G>TCA349844893COL3A1c.2942G>T (p.Gly981Val)
c.3041G>T (p.Gly1014Val)
c.2528-1847G>T (n.2528-1847G>T)
 COSMIC
2g.189006208A>CCA430312695COL3A1c.2943A>C (p.Gly981=)
c.3042A>C (p.Gly1014=)
c.2528-1846A>C (n.2528-1846A>C)
2g.189006208A>GCA430312694COL3A1c.2943A>G (p.Gly981=)
c.3042A>G (p.Gly1014=)
c.2528-1846A>G (n.2528-1846A>G)
2g.189006208A>TCA430312693COL3A1c.2943A>T (p.Gly981=)
c.3042A>T (p.Gly1014=)
c.2528-1846A>T (n.2528-1846A>T)
2g.189006209A>CCA349844894COL3A1c.2944A>C (p.Asn982His)
c.3043A>C (p.Asn1015His)
c.2528-1845A>C (n.2528-1845A>C)
2g.189006209A>GCA349844895COL3A1c.2944A>G (p.Asn982Asp)
c.3043A>G (p.Asn1015Asp)
c.2528-1845A>G (n.2528-1845A>G)
2g.189006209A>TCA349844896COL3A1c.2944A>T (p.Asn982Tyr)
c.3043A>T (p.Asn1015Tyr)
c.2528-1845A>T (n.2528-1845A>T)
 COSMIC
2g.189006210A=CA1315404020COL3A1c.2945A= (p.Asn982=)
c.3044A= (p.Asn1015=)
c.2528-1844A= (n.2528-1844A=)
2g.189006210A>CCA349844897COL3A1c.2945A>C (p.Asn982Thr)
c.3044A>C (p.Asn1015Thr)
c.2528-1844A>C (n.2528-1844A>C)
2g.189006210A>GCA16617394COL3A1c.2945A>G (p.Asn982Ser)
c.3044A>G (p.Asn1015Ser)
c.2528-1844A>G (n.2528-1844A>G)
 ClinVar dbSNP gnomAD v4
2g.189006210A>TCA349844898COL3A1c.2945A>T (p.Asn982Ile)
c.3044A>T (p.Asn1015Ile)
c.2528-1844A>T (n.2528-1844A>T)
 dbSNP gnomAD v2 gnomAD v4
2g.189006211C>ACA349844899COL3A1c.2946C>A (p.Asn982Lys)
c.3045C>A (p.Asn1015Lys)
c.2528-1843C>A (n.2528-1843C>A)
 gnomAD v4
2g.189006211C>GCA349844900COL3A1c.2946C>G (p.Asn982Lys)
c.3045C>G (p.Asn1015Lys)
c.2528-1843C>G (n.2528-1843C>G)
2g.189006211C>TCA430312714COL3A1c.2946C>T (p.Asn982=)
c.3045C>T (p.Asn1015=)
c.2528-1843C>T (n.2528-1843C>T)
2g.189006212C>ACA349844901COL3A1c.2947C>A (p.Pro983Thr)
c.3046C>A (p.Pro1016Thr)
c.2528-1842C>A (n.2528-1842C>A)
 dbSNP gnomAD v2 gnomAD v4
2g.189006212C=CA1315404021COL3A1c.2947C= (p.Pro983=)
c.3046C= (p.Pro1016=)
c.2528-1842C= (n.2528-1842C=)
2g.189006212C>GCA349844902COL3A1c.2947C>G (p.Pro983Ala)
c.3046C>G (p.Pro1016Ala)
c.2528-1842C>G (n.2528-1842C>G)
2g.189006212C>TCA349844903COL3A1c.2947C>T (p.Pro983Ser)
c.3046C>T (p.Pro1016Ser)
c.2528-1842C>T (n.2528-1842C>T)
2g.189006213C>ACA349844904COL3A1c.2948C>A (p.Pro983His)
c.3047C>A (p.Pro1016His)
c.2528-1841C>A (n.2528-1841C>A)
2g.189006213C>GCA349844905COL3A1c.2948C>G (p.Pro983Arg)
c.3047C>G (p.Pro1016Arg)
c.2528-1841C>G (n.2528-1841C>G)
2g.189006213C>TCA349844906COL3A1c.2948C>T (p.Pro983Leu)
c.3047C>T (p.Pro1016Leu)
c.2528-1841C>T (n.2528-1841C>T)
2g.189006214T>ACA430312715COL3A1c.2949T>A (p.Pro983=)
c.3048T>A (p.Pro1016=)
c.2528-1840T>A (n.2528-1840T>A)
2g.189006214T>CCA430312717COL3A1c.2949T>C (p.Pro983=)
c.3048T>C (p.Pro1016=)
c.2528-1840T>C (n.2528-1840T>C)
2g.189006214T>GCA430312716COL3A1c.2949T>G (p.Pro983=)
c.3048T>G (p.Pro1016=)
c.2528-1840T>G (n.2528-1840T>G)
2g.189006215G>ACA349844907COL3A1c.2950G>A (p.Gly984Arg)
c.3049G>A (p.Gly1017Arg)
c.2528-1839G>A (n.2528-1839G>A)
 ClinVar dbSNP
2g.189006215G>CCA349844908COL3A1c.2950G>C (p.Gly984Arg)
c.3049G>C (p.Gly1017Arg)
c.2528-1839G>C (n.2528-1839G>C)
2g.189006215G=CA1315404022COL3A1c.2950G= (p.Gly984=)
c.3049G= (p.Gly1017=)
c.2528-1839G= (n.2528-1839G=)
2g.189006215G>TCA349844909COL3A1c.2950G>T (p.Gly984Ter)
c.3049G>T (p.Gly1017Ter)
c.2528-1839G>T (n.2528-1839G>T)
2g.189006216G>ACA349844910COL3A1c.2951G>A (p.Gly984Glu)
c.3050G>A (p.Gly1017Glu)
c.2528-1838G>A (n.2528-1838G>A)
2g.189006216G>CCA349844911COL3A1c.2951G>C (p.Gly984Ala)
c.3050G>C (p.Gly1017Ala)
c.2528-1838G>C (n.2528-1838G>C)
2g.189006216G>TCA349844912COL3A1c.2951G>T (p.Gly984Val)
c.3050G>T (p.Gly1017Val)
c.2528-1838G>T (n.2528-1838G>T)
2g.189006217A=CA1315404023COL3A1c.2952A= (p.Gly984=)
c.3051A= (p.Gly1017=)
c.2528-1837A= (n.2528-1837A=)
2g.189006217A>CCA430312718COL3A1c.2952A>C (p.Gly984=)
c.3051A>C (p.Gly1017=)
c.2528-1837A>C (n.2528-1837A>C)
2g.189006217A>GCA430312719COL3A1c.2952A>G (p.Gly984=)
c.3051A>G (p.Gly1017=)
c.2528-1837A>G (n.2528-1837A>G)
 dbSNP gnomAD v3 gnomAD v4
2g.189006217A>TCA430312720COL3A1c.2952A>T (p.Gly984=)
c.3051A>T (p.Gly1017=)
c.2528-1837A>T (n.2528-1837A>T)
2g.189006218T>ACA349844915COL3A1c.2953T>A (p.Ser985Thr)
c.3052T>A (p.Ser1018Thr)
c.2528-1836T>A (n.2528-1836T>A)
2g.189006218T>CCA349844913COL3A1c.2953T>C (p.Ser985Pro)
c.3052T>C (p.Ser1018Pro)
c.2528-1836T>C (n.2528-1836T>C)
2g.189006218T>GCA349844914COL3A1c.2953T>G (p.Ser985Ala)
c.3052T>G (p.Ser1018Ala)
c.2528-1836T>G (n.2528-1836T>G)
2g.189006219C>ACA349844916COL3A1c.2954C>A (p.Ser985Ter)
c.3053C>A (p.Ser1018Ter)
c.2528-1835C>A (n.2528-1835C>A)
2g.189006219C>GCA349844917COL3A1c.2954C>G (p.Ser985Ter)
c.3053C>G (p.Ser1018Ter)
c.2528-1835C>G (n.2528-1835C>G)
2g.189006219C>TCA349844918COL3A1c.2954C>T (p.Ser985Leu)
c.3053C>T (p.Ser1018Leu)
c.2528-1835C>T (n.2528-1835C>T)
 gnomAD v4
2g.189006220A>CCA430312721COL3A1c.2955A>C (p.Ser985=)
c.3054A>C (p.Ser1018=)
c.2528-1834A>C (n.2528-1834A>C)
2g.189006220A>GCA430312722COL3A1c.2955A>G (p.Ser985=)
c.3054A>G (p.Ser1018=)
c.2528-1834A>G (n.2528-1834A>G)
2g.189006220A>TCA430312723COL3A1c.2955A>T (p.Ser985=)
c.3054A>T (p.Ser1018=)
c.2528-1834A>T (n.2528-1834A>T)
2g.189006221G>ACA349844919COL3A1c.2956G>A (p.Asp986Asn)
c.3055G>A (p.Asp1019Asn)
c.2528-1833G>A (n.2528-1833G>A)
2g.189006221G>CCA349844920COL3A1c.2956G>C (p.Asp986His)
c.3055G>C (p.Asp1019His)
c.2528-1833G>C (n.2528-1833G>C)
2g.189006221G>TCA349844921COL3A1c.2956G>T (p.Asp986Tyr)
c.3055G>T (p.Asp1019Tyr)
c.2528-1833G>T (n.2528-1833G>T)
2g.189006222A>CCA349844922COL3A1c.2957A>C (p.Asp986Ala)
c.3056A>C (p.Asp1019Ala)
c.2528-1832A>C (n.2528-1832A>C)
2g.189006222A>GCA349844923COL3A1c.2957A>G (p.Asp986Gly)
c.3056A>G (p.Asp1019Gly)
c.2528-1832A>G (n.2528-1832A>G)
2g.189006222A>TCA349844924COL3A1c.2957A>T (p.Asp986Val)
c.3056A>T (p.Asp1019Val)
c.2528-1832A>T (n.2528-1832A>T)
2g.189006223T>ACA349844925COL3A1c.2958T>A (p.Asp986Glu)
c.3057T>A (p.Asp1019Glu)
c.2528-1831T>A (n.2528-1831T>A)
 dbSNP gnomAD v2 gnomAD v4
2g.189006223T>CCA075825COL3A1c.2958T>C (p.Asp986=)
c.3057T>C (p.Asp1019=)
c.2528-1831T>C (n.2528-1831T>C)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189006223T>GCA349844926COL3A1c.2958T>G (p.Asp986Glu)
c.3057T>G (p.Asp1019Glu)
c.2528-1831T>G (n.2528-1831T>G)
2g.189006223T=CA1315404024COL3A1c.2958T= (p.Asp986=)
c.3057T= (p.Asp1019=)
c.2528-1831T= (n.2528-1831T=)
2g.189006224G>ACA349844929COL3A1c.2959G>A (p.Gly987Ser)
c.3058G>A (p.Gly1020Ser)
c.2528-1830G>A (n.2528-1830G>A)
2g.189006224G>CCA349844928COL3A1c.2959G>C (p.Gly987Arg)
c.3058G>C (p.Gly1020Arg)
c.2528-1830G>C (n.2528-1830G>C)
2g.189006224G>TCA349844927COL3A1c.2959G>T (p.Gly987Cys)
c.3058G>T (p.Gly1020Cys)
c.2528-1830G>T (n.2528-1830G>T)
2g.189006225G>ACA349844932COL3A1c.2960G>A (p.Gly987Asp)
c.3059G>A (p.Gly1020Asp)
c.2528-1829G>A (n.2528-1829G>A)
2g.189006225G>CCA349844930COL3A1c.2960G>C (p.Gly987Ala)
c.3059G>C (p.Gly1020Ala)
c.2528-1829G>C (n.2528-1829G>C)
2g.189006225G>TCA349844931COL3A1c.2960G>T (p.Gly987Val)
c.3059G>T (p.Gly1020Val)
c.2528-1829G>T (n.2528-1829G>T)
2g.189006225_189006228delinsGTCTCA1315404025COL3A1c.2960_2963delinsGTCT (p.Gly987=)
c.3059_3062delinsGTCT (p.Gly1020=)
c.2528-1829_2528-1826delinsGTCT (n.2528-1829_2528-1826delinsGTCT)
2g.189006226T>ACA430312724COL3A1c.2961T>A (p.Gly987=)
c.3060T>A (p.Gly1020=)
c.2528-1828T>A (n.2528-1828T>A)
2g.189006226T>CCA430312725COL3A1c.2961T>C (p.Gly987=)
c.3060T>C (p.Gly1020=)
c.2528-1828T>C (n.2528-1828T>C)
2g.189006226T>GCA430312726COL3A1c.2961T>G (p.Gly987=)
c.3060T>G (p.Gly1020=)
c.2528-1828T>G (n.2528-1828T>G)
2g.189006228_189006230delCA005993COL3A1c.2963_2965del (p.Leu988del)
c.3062_3064del (p.Leu1021del)
c.2528-1826_2528-1824del (n.2528-1826_2528-1824del)
 ClinVar dbSNP
2g.189006227C>ACA005999COL3A1c.2962C>A (p.Leu988Ile)
c.3061C>A (p.Leu1021Ile)
c.2528-1827C>A (n.2528-1827C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189006227C=CA1315404026COL3A1c.2962C= (p.Leu988=)
c.3061C= (p.Leu1021=)
c.2528-1827C= (n.2528-1827C=)
2g.189006227C>GCA075832COL3A1c.2962C>G (p.Leu988Val)
c.3061C>G (p.Leu1021Val)
c.2528-1827C>G (n.2528-1827C>G)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189006227C>TCA349844933COL3A1c.2962C>T (p.Leu988Phe)
c.3061C>T (p.Leu1021Phe)
c.2528-1827C>T (n.2528-1827C>T)
2g.189006228T>ACA349844934COL3A1c.2963T>A (p.Leu988His)
c.3062T>A (p.Leu1021His)
c.2528-1826T>A (n.2528-1826T>A)
2g.189006228T>CCA349844935COL3A1c.2963T>C (p.Leu988Pro)
c.3062T>C (p.Leu1021Pro)
c.2528-1826T>C (n.2528-1826T>C)
2g.189006228T>GCA349844936COL3A1c.2963T>G (p.Leu988Arg)
c.3062T>G (p.Leu1021Arg)
c.2528-1826T>G (n.2528-1826T>G)
2g.189006229T>ACA430312727COL3A1c.2964T>A (p.Leu988=)
c.3063T>A (p.Leu1021=)
c.2528-1825T>A (n.2528-1825T>A)
2g.189006229T>CCA430312728COL3A1c.2964T>C (p.Leu988=)
c.3063T>C (p.Leu1021=)
c.2528-1825T>C (n.2528-1825T>C)
2g.189006229T>GCA430312729COL3A1c.2964T>G (p.Leu988=)
c.3063T>G (p.Leu1021=)
c.2528-1825T>G (n.2528-1825T>G)
2g.189006230C>ACA62559163COL3A1c.2965C>A (p.Pro989Thr)
c.3064C>A (p.Pro1022Thr)
c.2528-1824C>A (n.2528-1824C>A)
 dbSNP
2g.189006230C=CA1315404027COL3A1c.2965C= (p.Pro989=)
c.3064C= (p.Pro1022=)
c.2528-1824C= (n.2528-1824C=)
2g.189006230C>GCA349844937COL3A1c.2965C>G (p.Pro989Ala)
c.3064C>G (p.Pro1022Ala)
c.2528-1824C>G (n.2528-1824C>G)
2g.189006230C>TCA075835COL3A1c.2965C>T (p.Pro989Ser)
c.3064C>T (p.Pro1022Ser)
c.2528-1824C>T (n.2528-1824C>T)
 dbSNP ExAC gnomAD v2 gnomAD v4
2g.189006231C>ACA349844940COL3A1c.2966C>A (p.Pro989Gln)
c.3065C>A (p.Pro1022Gln)
c.2528-1823C>A (n.2528-1823C>A)
2g.189006231C>GCA349844939COL3A1c.2966C>G (p.Pro989Arg)
c.3065C>G (p.Pro1022Arg)
c.2528-1823C>G (n.2528-1823C>G)
 gnomAD v4
2g.189006231C>TCA349844938COL3A1c.2966C>T (p.Pro989Leu)
c.3065C>T (p.Pro1022Leu)
c.2528-1823C>T (n.2528-1823C>T)
 ClinVar
2g.189006232A=CA1315404028COL3A1c.2967A= (p.Pro989=)
c.3066A= (p.Pro1022=)
c.2528-1822A= (n.2528-1822A=)
2g.189006232A>CCA430312730COL3A1c.2967A>C (p.Pro989=)
c.3066A>C (p.Pro1022=)
c.2528-1822A>C (n.2528-1822A>C)
2g.189006232A>GCA075837COL3A1c.2967A>G (p.Pro989=)
c.3066A>G (p.Pro1022=)
c.2528-1822A>G (n.2528-1822A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189006232A>TCA430312731COL3A1c.2967A>T (p.Pro989=)
c.3066A>T (p.Pro1022=)
c.2528-1822A>T (n.2528-1822A>T)
2g.189006233G>ACA349844941COL3A1c.2968G>A (p.Gly990Ser)
c.3067G>A (p.Gly1023Ser)
c.2528-1821G>A (n.2528-1821G>A)
 gnomAD v4 COSMIC
2g.189006233G>CCA349844942COL3A1c.2968G>C (p.Gly990Arg)
c.3067G>C (p.Gly1023Arg)
c.2528-1821G>C (n.2528-1821G>C)
2g.189006233G>TCA349844943COL3A1c.2968G>T (p.Gly990Cys)
c.3067G>T (p.Gly1023Cys)
c.2528-1821G>T (n.2528-1821G>T)
2g.189006234G>ACA349844944COL3A1c.2969G>A (p.Gly990Asp)
c.3068G>A (p.Gly1023Asp)
c.2528-1820G>A (n.2528-1820G>A)
 ClinVar dbSNP
2g.189006234G>CCA349844945COL3A1c.2969G>C (p.Gly990Ala)
c.3068G>C (p.Gly1023Ala)
c.2528-1820G>C (n.2528-1820G>C)
2g.189006234G=CA1315404029COL3A1c.2969G= (p.Gly990=)
c.3068G= (p.Gly1023=)
c.2528-1820G= (n.2528-1820G=)
2g.189006234G>TCA349844946COL3A1c.2969G>T (p.Gly990Val)
c.3068G>T (p.Gly1023Val)
c.2528-1820G>T (n.2528-1820G>T)
2g.189006235C>ACA075840COL3A1c.2970C>A (p.Gly990=)
c.3069C>A (p.Gly1023=)
c.2528-1819C>A (n.2528-1819C>A)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189006235C=CA1315404030COL3A1c.2970C= (p.Gly990=)
c.3069C= (p.Gly1023=)
c.2528-1819C= (n.2528-1819C=)
2g.189006235C>GCA430312733COL3A1c.2970C>G (p.Gly990=)
c.3069C>G (p.Gly1023=)
c.2528-1819C>G (n.2528-1819C>G)
2g.189006235C>TCA430312732COL3A1c.2970C>T (p.Gly990=)
c.3069C>T (p.Gly1023=)
c.2528-1819C>T (n.2528-1819C>T)
2g.189006235_189006236delCA2577185870COL3A1c.2970_2971del (p.Asp992TrpfsTer8)
c.3069_3070del (p.Asp1025TrpfsTer8)
c.2528-1819_2528-1818del (n.2528-1819_2528-1818del)
2g.189006236C>ACA430312734COL3A1c.2971C>A (p.Arg991=)
c.3070C>A (p.Arg1024=)
c.2528-1818C>A (n.2528-1818C>A)
2g.189006236C=CA1315404031COL3A1c.2971C= (p.Arg991=)
c.3070C= (p.Arg1024=)
c.2528-1818C= (n.2528-1818C=)
2g.189006236C>GCA349844947COL3A1c.2971C>G (p.Arg991Gly)
c.3070C>G (p.Arg1024Gly)
c.2528-1818C>G (n.2528-1818C>G)
2g.189006236C>TCA006006COL3A1c.2971C>T (p.Arg991Ter)
c.3070C>T (p.Arg1024Ter)
c.2528-1818C>T (n.2528-1818C>T)
 ClinVar dbSNP COSMIC
2g.189006237G>ACA349844948COL3A1c.2972G>A (p.Arg991Gln)
c.3071G>A (p.Arg1024Gln)
c.2528-1817G>A (n.2528-1817G>A)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189006237G>CCA349844949COL3A1c.2972G>C (p.Arg991Pro)
c.3071G>C (p.Arg1024Pro)
c.2528-1817G>C (n.2528-1817G>C)
2g.189006237G=CA1315404032COL3A1c.2972G= (p.Arg991=)
c.3071G= (p.Arg1024=)
c.2528-1817G= (n.2528-1817G=)
2g.189006237G>TCA349844950COL3A1c.2972G>T (p.Arg991Leu)
c.3071G>T (p.Arg1024Leu)
c.2528-1817G>T (n.2528-1817G>T)
 COSMIC
2g.189006238A>CCA430312735COL3A1c.2973A>C (p.Arg991=)
c.3072A>C (p.Arg1024=)
c.2528-1816A>C (n.2528-1816A>C)
2g.189006238A>GCA430312736COL3A1c.2973A>G (p.Arg991=)
c.3072A>G (p.Arg1024=)
c.2528-1816A>G (n.2528-1816A>G)
2g.189006238A>TCA430312737COL3A1c.2973A>T (p.Arg991=)
c.3072A>T (p.Arg1024=)
c.2528-1816A>T (n.2528-1816A>T)
2g.189006239G>ACA349844952COL3A1c.2974G>A (p.Asp992Asn)
c.3073G>A (p.Asp1025Asn)
c.2528-1815G>A (n.2528-1815G>A)
2g.189006239G>CCA349844953COL3A1c.2974G>C (p.Asp992His)
c.3073G>C (p.Asp1025His)
c.2528-1815G>C (n.2528-1815G>C)
2g.189006239G>TCA349844951COL3A1c.2974G>T (p.Asp992Tyr)
c.3073G>T (p.Asp1025Tyr)
c.2528-1815G>T (n.2528-1815G>T)
2g.189006240A=CA1315404033COL3A1c.2975A= (p.Asp992=)
c.3074A= (p.Asp1025=)
c.2528-1814A= (n.2528-1814A=)
2g.189006240A>CCA349844954COL3A1c.2975A>C (p.Asp992Ala)
c.3074A>C (p.Asp1025Ala)
c.2528-1814A>C (n.2528-1814A>C)
 ClinVar dbSNP gnomAD v4
2g.189006240A>GCA349844955COL3A1c.2975A>G (p.Asp992Gly)
c.3074A>G (p.Asp1025Gly)
c.2528-1814A>G (n.2528-1814A>G)
2g.189006240A>TCA349844956COL3A1c.2975A>T (p.Asp992Val)
c.3074A>T (p.Asp1025Val)
c.2528-1814A>T (n.2528-1814A>T)
2g.189006241T>ACA349844957COL3A1c.2976T>A (p.Asp992Glu)
c.3075T>A (p.Asp1025Glu)
c.2528-1813T>A (n.2528-1813T>A)
2g.189006241T>CCA430312738COL3A1c.2976T>C (p.Asp992=)
c.3075T>C (p.Asp1025=)
c.2528-1813T>C (n.2528-1813T>C)
 ClinVar gnomAD v4
2g.189006241T>GCA349844958COL3A1c.2976T>G (p.Asp992Glu)
c.3075T>G (p.Asp1025Glu)
c.2528-1813T>G (n.2528-1813T>G)
2g.189006242G>ACA349844961COL3A1c.2977G>A (p.Gly993Arg)
c.3076G>A (p.Gly1026Arg)
c.2528-1812G>A (n.2528-1812G>A)
2g.189006242G>CCA349844960COL3A1c.2977G>C (p.Gly993Arg)
c.3076G>C (p.Gly1026Arg)
c.2528-1812G>C (n.2528-1812G>C)
2g.189006242G>TCA349844959COL3A1c.2977G>T (p.Gly993Ter)
c.3076G>T (p.Gly1026Ter)
c.2528-1812G>T (n.2528-1812G>T)
2g.189006243G>ACA349844962COL3A1c.2978G>A (p.Gly993Glu)
c.3077G>A (p.Gly1026Glu)
c.2528-1811G>A (n.2528-1811G>A)
 COSMIC
2g.189006243G>CCA349844963COL3A1c.2978G>C (p.Gly993Ala)
c.3077G>C (p.Gly1026Ala)
c.2528-1811G>C (n.2528-1811G>C)
2g.189006243G=CA1315404034COL3A1c.2978G= (p.Gly993=)
c.3077G= (p.Gly1026=)
c.2528-1811G= (n.2528-1811G=)
2g.189006243G>TCA349844964COL3A1c.2978G>T (p.Gly993Val)
c.3077G>T (p.Gly1026Val)
c.2528-1811G>T (n.2528-1811G>T)
 ClinVar dbSNP
2g.189006244A>CCA430312741COL3A1c.2979A>C (p.Gly993=)
c.3078A>C (p.Gly1026=)
c.2528-1810A>C (n.2528-1810A>C)
2g.189006244A>GCA430312740COL3A1c.2979A>G (p.Gly993=)
c.3078A>G (p.Gly1026=)
c.2528-1810A>G (n.2528-1810A>G)
2g.189006244A>TCA430312739COL3A1c.2979A>T (p.Gly993=)
c.3078A>T (p.Gly1026=)
c.2528-1810A>T (n.2528-1810A>T)
2g.189006245T>ACA349844965COL3A1c.2980T>A (p.Ser994Thr)
c.3079T>A (p.Ser1027Thr)
c.2528-1809T>A (n.2528-1809T>A)
 gnomAD v4
2g.189006245T>CCA349844966COL3A1c.2980T>C (p.Ser994Pro)
c.3079T>C (p.Ser1027Pro)
c.2528-1809T>C (n.2528-1809T>C)
2g.189006245T>GCA349844967COL3A1c.2980T>G (p.Ser994Ala)
c.3079T>G (p.Ser1027Ala)
c.2528-1809T>G (n.2528-1809T>G)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189006245T=CA1315404035COL3A1c.2980T= (p.Ser994=)
c.3079T= (p.Ser1027=)
c.2528-1809T= (n.2528-1809T=)
2g.189006246C>ACA349844970COL3A1c.2981C>A (p.Ser994Tyr)
c.3080C>A (p.Ser1027Tyr)
c.2528-1808C>A (n.2528-1808C>A)
2g.189006246C=CA1315404036COL3A1c.2981C= (p.Ser994=)
c.3080C= (p.Ser1027=)
c.2528-1808C= (n.2528-1808C=)
2g.189006246C>GCA349844968COL3A1c.2981C>G (p.Ser994Cys)
c.3080C>G (p.Ser1027Cys)
c.2528-1808C>G (n.2528-1808C>G)
 dbSNP
2g.189006246C>TCA349844969COL3A1c.2981C>T (p.Ser994Phe)
c.3080C>T (p.Ser1027Phe)
c.2528-1808C>T (n.2528-1808C>T)
 dbSNP gnomAD v2 gnomAD v4
2g.189006247T>ACA430312742COL3A1c.2982T>A (p.Ser994=)
c.3081T>A (p.Ser1027=)
c.2528-1807T>A (n.2528-1807T>A)
2g.189006247T>CCA430312743COL3A1c.2982T>C (p.Ser994=)
c.3081T>C (p.Ser1027=)
c.2528-1807T>C (n.2528-1807T>C)
2g.189006247T>GCA430312744COL3A1c.2982T>G (p.Ser994=)
c.3081T>G (p.Ser1027=)
c.2528-1807T>G (n.2528-1807T>G)
2g.189006248C>ACA349844971COL3A1c.2983C>A (p.Pro995Thr)
c.3082C>A (p.Pro1028Thr)
c.2528-1806C>A (n.2528-1806C>A)
2g.189006248C>GCA349844972COL3A1c.2983C>G (p.Pro995Ala)
c.3082C>G (p.Pro1028Ala)
c.2528-1806C>G (n.2528-1806C>G)
2g.189006248C>TCA349844973COL3A1c.2983C>T (p.Pro995Ser)
c.3082C>T (p.Pro1028Ser)
c.2528-1806C>T (n.2528-1806C>T)
 ClinVar dbSNP gnomAD v4 COSMIC
2g.189006249C>ACA349844974COL3A1c.2984C>A (p.Pro995His)
c.3083C>A (p.Pro1028His)
c.2528-1805C>A (n.2528-1805C>A)
2g.189006249C>GCA349844975COL3A1c.2984C>G (p.Pro995Arg)
c.3083C>G (p.Pro1028Arg)
c.2528-1805C>G (n.2528-1805C>G)
2g.189006249C>TCA349844976COL3A1c.2984C>T (p.Pro995Leu)
c.3083C>T (p.Pro1028Leu)
c.2528-1805C>T (n.2528-1805C>T)
2g.189006250T>ACA430312745COL3A1c.2985T>A (p.Pro995=)
c.3084T>A (p.Pro1028=)
c.2528-1804T>A (n.2528-1804T>A)
2g.189006250T>CCA430312746COL3A1c.2985T>C (p.Pro995=)
c.3084T>C (p.Pro1028=)
c.2528-1804T>C (n.2528-1804T>C)
2g.189006250T>GCA430312747COL3A1c.2985T>G (p.Pro995=)
c.3084T>G (p.Pro1028=)
c.2528-1804T>G (n.2528-1804T>G)
2g.189006251G>ACA349844977COL3A1c.2986G>A (p.Gly996Ser)
c.3085G>A (p.Gly1029Ser)
c.2528-1803G>A (n.2528-1803G>A)
2g.189006251G>CCA349844978COL3A1c.2986G>C (p.Gly996Arg)
c.3085G>C (p.Gly1029Arg)
c.2528-1803G>C (n.2528-1803G>C)
2g.189006251G=CA1315404037COL3A1c.2986G= (p.Gly996=)
c.3085G= (p.Gly1029=)
c.2528-1803G= (n.2528-1803G=)
2g.189006251G>TCA349844979COL3A1c.2986G>T (p.Gly996Cys)
c.3085G>T (p.Gly1029Cys)
c.2528-1803G>T (n.2528-1803G>T)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
2g.189006252G>ACA349844980COL3A1c.2987G>A (p.Gly996Asp)
c.3086G>A (p.Gly1029Asp)
c.2528-1802G>A (n.2528-1802G>A)
2g.189006252G>CCA349844981COL3A1c.2987G>C (p.Gly996Ala)
c.3086G>C (p.Gly1029Ala)
c.2528-1802G>C (n.2528-1802G>C)
2g.189006252G>TCA349844982COL3A1c.2987G>T (p.Gly996Val)
c.3086G>T (p.Gly1029Val)
c.2528-1802G>T (n.2528-1802G>T)
 COSMIC
2g.189006253T>ACA430312748COL3A1c.2988T>A (p.Gly996=)
c.3087T>A (p.Gly1029=)
c.2528-1801T>A (n.2528-1801T>A)
 dbSNP gnomAD v3 gnomAD v4
2g.189006253T>CCA430312749COL3A1c.2988T>C (p.Gly996=)
c.3087T>C (p.Gly1029=)
c.2528-1801T>C (n.2528-1801T>C)
2g.189006253T>GCA430312750COL3A1c.2988T>G (p.Gly996=)
c.3087T>G (p.Gly1029=)
c.2528-1801T>G (n.2528-1801T>G)
2g.189006253T=CA1315404038COL3A1c.2988T= (p.Gly996=)
c.3087T= (p.Gly1029=)
c.2528-1801T= (n.2528-1801T=)
2g.189006254G>ACA349844983COL3A1c.2989G>A (p.Gly997Ser)
c.3088G>A (p.Gly1030Ser)
c.2528-1800G>A (n.2528-1800G>A)
2g.189006254G>CCA349844985COL3A1c.2989G>C (p.Gly997Arg)
c.3088G>C (p.Gly1030Arg)
c.2528-1800G>C (n.2528-1800G>C)
2g.189006254G>TCA349844984COL3A1c.2989G>T (p.Gly997Cys)
c.3088G>T (p.Gly1030Cys)
c.2528-1800G>T (n.2528-1800G>T)
 COSMIC
2g.189006255G>ACA349844986COL3A1c.2990G>A (p.Gly997Asp)
c.3089G>A (p.Gly1030Asp)
c.2528-1799G>A (n.2528-1799G>A)
 ClinVar gnomAD v4
2g.189006255G>CCA349844987COL3A1c.2990G>C (p.Gly997Ala)
c.3089G>C (p.Gly1030Ala)
c.2528-1799G>C (n.2528-1799G>C)
2g.189006255G>TCA349844988COL3A1c.2990G>T (p.Gly997Val)
c.3089G>T (p.Gly1030Val)
c.2528-1799G>T (n.2528-1799G>T)
 gnomAD v4
2g.189006256C>ACA430312751COL3A1c.2991C>A (p.Gly997=)
c.3090C>A (p.Gly1030=)
c.2528-1798C>A (n.2528-1798C>A)
2g.189006256C>GCA430312752COL3A1c.2991C>G (p.Gly997=)
c.3090C>G (p.Gly1030=)
c.2528-1798C>G (n.2528-1798C>G)
2g.189006256C>TCA430312753COL3A1c.2991C>T (p.Gly997=)
c.3090C>T (p.Gly1030=)
c.2528-1798C>T (n.2528-1798C>T)
2g.189006257A>CCA349844989COL3A1c.2992A>C (p.Lys998Gln)
c.3091A>C (p.Lys1031Gln)
c.2528-1797A>C (n.2528-1797A>C)
2g.189006257A>GCA349844990COL3A1c.2992A>G (p.Lys998Glu)
c.3091A>G (p.Lys1031Glu)
c.2528-1797A>G (n.2528-1797A>G)
2g.189006257A>TCA349844991COL3A1c.2992A>T (p.Lys998Ter)
c.3091A>T (p.Lys1031Ter)
c.2528-1797A>T (n.2528-1797A>T)
2g.189006258A=CA1315404039COL3A1c.2993A= (p.Lys998=)
c.3092A= (p.Lys1031=)
c.2528-1796A= (n.2528-1796A=)
2g.189006258A>CCA349844992COL3A1c.2993A>C (p.Lys998Thr)
c.3092A>C (p.Lys1031Thr)
c.2528-1796A>C (n.2528-1796A>C)
 ClinVar dbSNP
2g.189006258A>GCA075843COL3A1c.2993A>G (p.Lys998Arg)
c.3092A>G (p.Lys1031Arg)
c.2528-1796A>G (n.2528-1796A>G)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
2g.189006258A>TCA349844993COL3A1c.2993A>T (p.Lys998Met)
c.3092A>T (p.Lys1031Met)
c.2528-1796A>T (n.2528-1796A>T)
2g.189006261_189006345delCA2753571974COL3A1c.2994+2_2995del
c.3093+2_3094del
c.2528-1793_2528-1709del (n.2528-1793_2528-1709del)
2g.189006259G>ACA430312754COL3A1c.2994G>A (p.Lys998=)
c.3093G>A (p.Lys1031=)
c.2528-1795G>A (n.2528-1795G>A)
 ClinVar dbSNP gnomAD v4 COSMIC
2g.189006259G>CCA349844994COL3A1c.2994G>C (p.Lys998Asn)
c.3093G>C (p.Lys1031Asn)
c.2528-1795G>C (n.2528-1795G>C)
2g.189006259G=CA1315404040COL3A1c.2994G= (p.Lys998=)
c.3093G= (p.Lys1031=)
c.2528-1795G= (n.2528-1795G=)
2g.189006259G>TCA349844995COL3A1c.2994G>T (p.Lys998Asn)
c.3093G>T (p.Lys1031Asn)
c.2528-1795G>T (n.2528-1795G>T)

Number of alleles fetched